Different genes behind same adaptation to thin air

December 6, 2012

Highlanders in Tibet and Ethiopia share a biological adaptation that enables them to thrive in the low oxygen of high altitudes, but the ability to pass on the trait appears to be linked to different genes in the two groups, research from a Case Western Reserve University scientist and colleagues shows.

The adaptation is the ability to maintain a relatively low (for high altitudes) level of hemoglobin, the oxygen-carrying protein in red blood cells. Members of ethnic populations - such as most Americans - who historically live at low altitudes naturally respond to the thin air by increasing hemoglobin levels. The response can help draw oxygen into the body, but increases blood viscosity and the risks for thrombosis, stroke and difficulties with pregnancies.

By revealing how populations can live in severe environments, the research may provide insight for managing high-altitude sickness and for treating low blood-oxygen conditions such as asthma, sleep apnea, and heart problems among all people.

How long such physiological and genetic changes take remains a question. The researchers found the adaptation in an ethnic group that has lived high in mountains of Ethiopia for at least 5,000 years, but not among a related group that has lived high in the mountains for 500 years.

The findings are reported today in the open-access online journal PLoS Genetics.

In their first comparison, the researchers found that the genes responsible for hemoglobin levels in Tibetans don't influence an ethnic group called the Amhara

The Amhara have lived more than a mile high in the Semien Mountains of northern Ethiopia for 5,000 to 70,000 years. A different variant on the Amhara genome, far away from the location of the Tibetan variant, is significantly associated with their low hemoglobin levels.

"All indications are we're seeing convergent evolution," said Cynthia Beall, professor of anthropology at Case Western Reserve University and one of the leaders of the study. Convergent evolution is when two separate populations change biologically in a similar way to adapt to a similar environment yet use different mechanisms.

"These were two different evolutionary experiments," Beall said of the mountain dwellers in Tibet and Ethiopia. "On one level—the biological response—they are the same. On another level—the changes in the gene pool—they are different."

Beall investigated the adaptations and genetic links with Gorka Alkorta-Aranburu, David Witonsky, Jonathan K. Pritchard and Anna Di Rienzo, of the University of Chicago department of human genetics, and Amha Gebremedhin of Adis Ababa University's department of internal medicine in Ethiopia.

In addition to studying the Amhara, the researchers looked for changes in physiology and genetics among a related ethnic group, the Oromo, who have lived more than a mile above sea level in the Bale Mountains of southern Ethiopia for 500 years.

They found no long-term adaptation and no genetic changes related to a low-oxygen environment.

They found the Omoro had high levels of hemoglobin, as would be expected for a lowland population.

Using the same samples collected from the Amhara and Oromo, the researchers are now studying biological traits among the groups, including ventilation, and the influence of vasoconstrictors and vasodilators on blood flow, and searching for associations with genes.

They also plan to continue research and study blood flow, especially through the heart and lungs of the highlanders, and to test the metabolic rate of mitochondria that use oxygen to create the energy on which our cells and we operate.

"We also want to find whether people with the variants for low hemoglobin levels have more children and a higher survival rate," Beall said. "That's the evolutionary payoff."

Related Stories

Over many generations, people living in the high-altitude regions of the Andes or on the Tibetan Plateau have adapted to life in low-oxygen conditions. Living with such a distinct and powerful selective pressure has made ...

Many hormones and neurotransmitters work by binding to receptors on a cell's exterior surface. This activates receptors causing them to twist, turn and spark chemical reactions inside cells. NIH scientists used atomic level ...

In the last two decades, prosthetic limb technology has grown by leaps and bounds. Today, the most advanced prostheses incorporate microprocessors that work with onboard gyroscopes, accelerometers, and hydraulics to enable ...

Seeking to stem the tide of permanent hearing loss from the use of life-saving antibiotics, researchers at Oregon Health & Science University have found that patients stricken with dangerous bacterial infections are at greater ...

In a way, trying to repair age-related heart damage and trying to fight cancer are opposite problems. Your heart cells' ability to regenerate themselves and proliferate into new, young cells degrades as you get older. They ...

The lymphatic system provides a slow flow of fluid from our organs and tissues into the bloodstream. It returns fluid and proteins that leak from blood vessels, provides passage for immune and inflammatory cells from the ...

0 comments

Please sign in to add a comment.
Registration is free, and takes less than a minute.
Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.